ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=)

gnomAD frequency: 0.00032  dbSNP: rs200728478
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192832 SCV000248828 likely benign not specified 2021-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000861897 SCV000515611 benign not provided 2019-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317708 SCV000851002 likely benign Inborn genetic diseases 2016-05-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001087432 SCV001002311 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000861897 SCV001145510 benign not provided 2019-04-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000861897 SCV001148744 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing SCN8A: BP4, BP7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000861897 SCV001954810 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000861897 SCV001975204 likely benign not provided no assertion criteria provided clinical testing

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